摘要
目的了解粤北地区新生儿葡萄糖6磷酸脱氢酶(G6PD)缺乏症的发生率和G6PD缺乏症的基因突变类型,以及G6PD缺乏症与病理性黄疸的相关性。方法对本院2014年5月~2015年5月共740例新生儿进行G6PD缺乏症筛查,结合黄疸指数监测进行对比分析。95例有病理性黄疸的婴儿行G6PD缺乏症基因检测。结果本市新生G6PD缺乏症筛查发生率4.46%,男婴发生率6.30%,女婴发生率2.51%;G6PD正常新生儿病理性黄疸发生率8.77%,G6PD缺乏症新生儿病理性黄疸发生率33.3%。G6PD缺乏症基因携带发生率5.41%。结论 G6PD缺乏症是新生儿病理性黄疸发生的重要原因,对新生儿进行G6PD筛查及G6PD缺乏症基因检测,有助于指导干预新生儿病理性黄疸。
Objective:To acquire Glucose-6-phosphate dehydrogenase(G6PD)deficiency incidence and G6PD gene mutation type in northern Guangdong,and the correlation between G6PD deficiency and pathological jaundice. Methods:740 newborns were collected to do G6PD deficiency screening and jaundice index monitoring from May 2014 to May 2015 in our hospital. 95 newborns with pathological jaundice were done G6PD gene mutation. Results:G6PD deficiency screening positive rate was 4.46%. Positive rate of male newborns was 6.30% and positive rate of female newborns was 2.51%.The normal newborns′incidence of pathological jaundice was 8.77%;The G6PD deficiency newborns′incidence of pathological jaundice was 33.3%. G6PD deficiency gene carrying incidence rate was 5.41%. Conclusion:G6PD deficiency is an important reason of newborns′pathological jaundice. Newborns′G6PD screening and G6PD deficiency gene test is helpful to monitor and intervene neonatal pathological jaundice.
出处
《中国优生与遗传杂志》
2016年第7期73-74,共2页
Chinese Journal of Birth Health & Heredity